DSN SPOTLIGHT – Maggie Shepherd

The role of the diabetes specialist nurse is hugely important in ensuring high-quality diabetes care. Our DSN Spotlight series celebrates this great position and also aims to find out more about those who are making a difference to people with diabetes every day.

Job title: Lead nurse for research and honorary clinical professor of monogenic diabetes

Trust: Royal Devon and Exeter NHS Foundation Trust and University of Exeter Medical School

Time in position: 21 years

What’s your biggest challenge in diabetes today?

Ensuring patients with monogenic diabetes have the correct diagnosis and treatment. This also means ensuring that healthcare professionals are familiar with the key characteristics of monogenic diabetes (diabetes caused by a change in a single gene) so they can recognise these patients and refer them for genetic testing as close to their diabetes diagnosis as possible.

Around 80 per cent of patients with monogenic diabetes are initially misdiagnosed as having type 1 or type 2 diabetes which means they are often taking unnecessary insulin injections or suboptimal treatment.

Increasing awareness and recognition of genetic diabetes is important not only in ensuring the individuals get the best treatment for their specific type of diabetes but also in ensuring other family members can be followed up appropriately.

What’s been your biggest achievement in diabetes care?

Setting up and running the national network of Genetic Diabetes Nurses (GDN).  These experienced diabetes specialists nurses received training in monogenic diabetes from the Exeter team three times a year and are seconded to work across their regions to raise awareness of genetic diabetes amongst healthcare professionals across the UK.

This leads to increased referrals of patients for genetic testing and ensures the patients are able to change to the optimal treatment following a positive molecular genetic diagnosis with support of their local GDN in liaison with their local diabetes team.

This project has been running since 2002 and 24 GDNs are currently in post covering 75 per cent of the UK and have provided education to >10,000 healthcare professionals.

This project is currently supported by Health Education England who are using it as a model for the translation of genetic findings into clinical care in other specialities.

The educational initiatives developed have been extended to include an annual international symposium in monogenic diabetes attended by diabetes professionals across the world. Details can be found on our website.

What would you like to see change in diabetes?

I would like to see a greater consideration of the cause of diabetes in all patients with diabetes diagnosed less than 25 years who have an affected parent or child.

We have developed a MODY probability calculator and a diabetes diagnostics app which allow for clinical characteristics to be entered which then calculate the chances of that individual having monogenic diabetes.

Additional use of non genetic tests such as pancreatic antibodies and c-peptide can also be used to help differentiate between type 1 and monogenic diabetes. Ensuring all patients get the correct diagnosis ‘at diagnosis’ would be fantastic.

What’s been the biggest development in the last 10 years?

The advances in genetic technology have led to the identification of 30 genes causing monogenic diabetes. The recognition of genes causing neonatal diabetes (diabetes diagnosed less than six months of age) has revolutionised the diagnosis and treatment of over 1500 individuals across the world.

Individuals with KCNJ11 or ABCC8 neonatal diabetes are able to stop insulin treatment and transfer successfully to sulphonylurea tablets with improvements in glycaemic control and quality of life. These genetic findings have been rapidly translated into clinical care for the direct benefit of patients.

What is the best way to achieve good health outcomes with your patients? Identifying patients with monogenic diabetes is vitally important. Many of these patients will still be attending diabetes clinics with a label of type 1 or type 2 diabetes.

Recognising patients with a possible genetic form of diabetes is the first step, genetic testing can then be performed where appropriate and treatment can be advised depending on the specific genetic cause of their diabetes.

Changing to the most appropriate treatment can lead to improvements in glycaemic control and quality of life as well as cost savings for the NHS. Local Genetic Diabetes Nurses can aid with this process and with the follow up of family members. See our website for more information.